Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02376:Pik3cb'

291110

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pik3cb

Ensembl Gene

ENSMUSG00000032462

Gene Name

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta

Synonyms

p110beta, 1110001J02Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL02376

Quality Score

Status

Chromosome

Chromosomal Location

99036654-99140621 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99052352 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 813 (M813I)

Ref Sequence

ENSEMBL: ENSMUSP00000035037 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035037] [ENSMUST00000136965]

AlphaFold

Q8BTI9

PDB Structure

CRYSTAL STRUCTURE OF P110BETA IN COMPLEX WITH ICSH2 OF P85BETA AND THE DRUG GDC-0941 [X-RAY DIFFRACTION]
Discovery and Optimization of Pyrimidone Indoline Amide PI3Kbeta Inhibitors for the Treatment of Phosphatase and TENsin homologue (PTEN)-Deficient Cancers [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000035037
AA Change: M813I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000035037
Gene: ENSMUSG00000032462
AA Change: M813I

Domain	Start	End	E-Value	Type
PI3K_p85B	35	112	2.44e-50	SMART
PI3K_rbd	174	282	1.88e-42	SMART
low complexity region	305	311	N/A	INTRINSIC
PI3K_C2	315	417	4.64e-33	SMART
PI3Ka	519	705	1.08e-92	SMART
PI3Kc	795	1061	8.75e-134	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136965

SMART Domains

Protein: ENSMUSP00000138346
Gene: ENSMUSG00000032462

Domain	Start	End	E-Value	Type
PI3K_p85B	35	112	2.44e-50	SMART
PI3K_rbd	174	282	1.88e-42	SMART
low complexity region	305	311	N/A	INTRINSIC
PI3K_C2	315	417	4.64e-33	SMART
Blast:PI3Ka	450	520	1e-37	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit 30% fetal lethality, decreased size at birth and postnatally, abnormal glucose homeostasis, and dyslipidemia. Mice homozygous for a different knock-out allele die prior to E8.5 [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	A	G	10: 77,984,554		probably benign	Het
2700081O15Rik	C	T	19: 7,422,376	P496L	probably damaging	Het
Abtb1	A	G	6: 88,838,484		probably benign	Het
Adcy3	G	A	12: 4,201,031	E597K	possibly damaging	Het
Adcy9	A	G	16: 4,418,680	V289A	probably benign	Het
Akr1d1	A	T	6: 37,530,285	D14V	probably damaging	Het
Ankrd12	T	C	17: 66,042,529		probably benign	Het
Arap3	T	C	18: 37,978,453	T1137A	possibly damaging	Het
Arhgef4	A	T	1: 34,806,059	Q77L	probably damaging	Het
Arhgef7	A	G	8: 11,817,735	T444A	probably damaging	Het
Arr3	A	C	X: 100,614,675	K281Q	probably damaging	Het
Arrdc2	A	T	8: 70,838,979	I114N	probably benign	Het
Atg2b	A	T	12: 105,645,468	F1217Y	probably damaging	Het
C1qtnf1	A	C	11: 118,448,068	Y188S	probably benign	Het
Cbx6	C	A	15: 79,828,299	R309L	probably benign	Het
Chrna9	T	C	5: 65,971,159	S237P	probably damaging	Het
Dapk1	G	A	13: 60,696,394	V76I	probably benign	Het
Elk4	T	A	1: 132,014,550	N53K	probably benign	Het
Epha7	A	C	4: 28,951,287	T799P	probably damaging	Het
Exosc2	G	A	2: 31,679,875	V233M	possibly damaging	Het
Fam217b	A	G	2: 178,417,573	D3G	probably benign	Het
Farp1	T	A	14: 121,272,856	N755K	probably damaging	Het
Fer	A	G	17: 63,934,346	E327G	possibly damaging	Het
Fmnl3	A	T	15: 99,318,963	F1017Y	possibly damaging	Het
Gabbr2	A	C	4: 46,684,300	I658S	probably damaging	Het
Gemin2	A	G	12: 59,021,720	D195G	probably benign	Het
Gtf3c1	T	A	7: 125,668,996	Y875F	probably benign	Het
Hnrnpr	G	A	4: 136,319,455	G149D	probably damaging	Het
Krt74	A	C	15: 101,754,503		noncoding transcript	Het
Ltf	A	G	9: 111,029,624	D480G	probably benign	Het
Map1b	A	G	13: 99,435,595	L206P	probably damaging	Het
Meis1	T	C	11: 18,881,752	M429V	probably benign	Het
Myh4	C	A	11: 67,245,728	T444N	probably benign	Het
Nckap1l	A	T	15: 103,471,231	Y315F	possibly damaging	Het
Ndst3	A	G	3: 123,556,798	I646T	probably damaging	Het
Ndufv1	T	C	19: 4,007,823		probably null	Het
Ogdhl	T	C	14: 32,343,318	Y710H	probably damaging	Het
Olfr1263	A	G	2: 90,015,460	I177V	probably benign	Het
Otud7b	A	G	3: 96,155,037	K531R	possibly damaging	Het
Pax3	T	C	1: 78,132,292	Y243C	probably damaging	Het
Pde1a	A	G	2: 79,875,223		probably benign	Het
Prss42	A	T	9: 110,803,107	D302V	possibly damaging	Het
Rad52	T	C	6: 119,915,230		probably benign	Het
Reln	A	T	5: 22,080,791	Y393*	probably null	Het
Rhbdd3	T	C	11: 5,103,192		probably benign	Het
Sbf2	C	T	7: 110,462,956	G138D	probably damaging	Het
Slco1a1	A	T	6: 141,924,334		probably null	Het
Smg9	A	G	7: 24,415,030	I265V	probably benign	Het
Sppl2b	G	T	10: 80,867,598	E565*	probably null	Het
Stx6	T	A	1: 155,201,979	V244D	probably benign	Het
Tle4	T	C	19: 14,594,404	N78D	probably damaging	Het
Tmcc3	A	G	10: 94,578,567	I44V	possibly damaging	Het
Tnnt3	C	T	7: 142,512,558	T220I	possibly damaging	Het
Ttn	A	T	2: 76,727,467	D29798E	possibly damaging	Het
Vtcn1	A	T	3: 100,892,665	M281L	probably benign	Het
Zfp595	T	C	13: 67,316,450	K586R	possibly damaging	Het

Other mutations in Pik3cb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00933:Pik3cb	APN	9	99101286	missense	probably damaging	0.96
IGL01354:Pik3cb	APN	9	99064168	missense	possibly damaging	0.83
IGL02132:Pik3cb	APN	9	99071377	missense	probably benign	0.01
IGL02268:Pik3cb	APN	9	99046556	missense	probably benign	0.00
IGL02378:Pik3cb	APN	9	99062840	missense	probably benign	0.40
IGL02748:Pik3cb	APN	9	99062968	splice site	probably benign
IGL03038:Pik3cb	APN	9	99065597	missense	probably damaging	1.00
IGL03142:Pik3cb	APN	9	99065562	missense	probably benign	0.10
H8786:Pik3cb	UTSW	9	99046559	missense	possibly damaging	0.80
R0071:Pik3cb	UTSW	9	99044865	missense	probably benign	0.02
R0071:Pik3cb	UTSW	9	99044865	missense	probably benign	0.02
R0305:Pik3cb	UTSW	9	99064076	missense	possibly damaging	0.86
R0464:Pik3cb	UTSW	9	99044743	critical splice donor site	probably null
R0635:Pik3cb	UTSW	9	99064218	splice site	probably benign
R1386:Pik3cb	UTSW	9	99064027	missense	possibly damaging	0.90
R1530:Pik3cb	UTSW	9	99053973	missense	probably damaging	0.96
R1802:Pik3cb	UTSW	9	99101289	nonsense	probably null
R1815:Pik3cb	UTSW	9	99093095	missense	possibly damaging	0.93
R2011:Pik3cb	UTSW	9	99105579	nonsense	probably null
R2079:Pik3cb	UTSW	9	99060204	missense	probably benign	0.27
R2153:Pik3cb	UTSW	9	99101244	nonsense	probably null
R2237:Pik3cb	UTSW	9	99041028	missense	probably damaging	1.00
R2238:Pik3cb	UTSW	9	99041028	missense	probably damaging	1.00
R2513:Pik3cb	UTSW	9	99061842	missense	probably damaging	1.00
R3982:Pik3cb	UTSW	9	99046601	missense	probably benign	0.06
R4009:Pik3cb	UTSW	9	99040929	missense	probably damaging	0.98
R4246:Pik3cb	UTSW	9	99101176	splice site	probably null
R4248:Pik3cb	UTSW	9	99101176	splice site	probably null
R4249:Pik3cb	UTSW	9	99101176	splice site	probably null
R4334:Pik3cb	UTSW	9	99061851	missense	probably damaging	1.00
R4544:Pik3cb	UTSW	9	99039759	missense	probably damaging	1.00
R4568:Pik3cb	UTSW	9	99090302	missense	probably benign	0.00
R4571:Pik3cb	UTSW	9	99090257	missense	possibly damaging	0.94
R4595:Pik3cb	UTSW	9	99055406	missense	possibly damaging	0.95
R4599:Pik3cb	UTSW	9	99061764	missense	probably benign	0.15
R4820:Pik3cb	UTSW	9	99073626	missense	probably benign	0.00
R4887:Pik3cb	UTSW	9	99101328	missense	probably damaging	0.99
R4967:Pik3cb	UTSW	9	99105632	missense	probably benign	0.14
R5029:Pik3cb	UTSW	9	99054060	missense	probably damaging	0.98
R5031:Pik3cb	UTSW	9	99071408	missense	probably damaging	1.00
R5394:Pik3cb	UTSW	9	99088663	missense	probably benign
R5769:Pik3cb	UTSW	9	99093159	nonsense	probably null
R6128:Pik3cb	UTSW	9	99064099	missense	possibly damaging	0.95
R6250:Pik3cb	UTSW	9	99094598	missense	probably benign	0.01
R6354:Pik3cb	UTSW	9	99073643	missense	probably benign	0.00
R6370:Pik3cb	UTSW	9	99040934	missense	probably damaging	1.00
R6664:Pik3cb	UTSW	9	99094538	missense	possibly damaging	0.56
R6665:Pik3cb	UTSW	9	99073649	missense	probably benign	0.00
R6751:Pik3cb	UTSW	9	99094521	missense	probably benign
R6781:Pik3cb	UTSW	9	99040992	missense	possibly damaging	0.52
R6869:Pik3cb	UTSW	9	99060259	missense	probably benign	0.08
R6883:Pik3cb	UTSW	9	99101400	missense	probably benign	0.00
R7150:Pik3cb	UTSW	9	99093090	missense	probably damaging	1.00
R7446:Pik3cb	UTSW	9	99046658	missense	probably damaging	1.00
R7679:Pik3cb	UTSW	9	99088607	missense	probably benign	0.05
R7831:Pik3cb	UTSW	9	99088613	missense	probably benign
R8300:Pik3cb	UTSW	9	99046658	missense	probably damaging	1.00
R8837:Pik3cb	UTSW	9	99054064	missense	possibly damaging	0.65
R8911:Pik3cb	UTSW	9	99064148	missense	probably benign	0.40
R9299:Pik3cb	UTSW	9	99061791	missense	probably damaging	1.00
R9337:Pik3cb	UTSW	9	99061791	missense	probably damaging	1.00
R9477:Pik3cb	UTSW	9	99040920	critical splice donor site	probably null
R9641:Pik3cb	UTSW	9	99073736	missense	probably benign	0.00

Posted On

2015-04-16